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International Journal of Applied &... 2024A male patient in his late twenties presented with ambiguous genitalia to our tertiary specialist unit with complaints of short stature and inadequate copulation. There...
A male patient in his late twenties presented with ambiguous genitalia to our tertiary specialist unit with complaints of short stature and inadequate copulation. There was no history of consanguinity, and a physical examination raised concerns about possible disorders of sexual development (DSD). Karyotyping and fluorescence hybridization results were consistent with the presence of two X chromosomes, revealing the patient to be a genotypic female. Sanger sequencing showed a heterozygous pathogenic mutation in the CYP21A2 gene known to be associated with 21-hydroxylase deficiency, thus confirming the diagnosis of congenital adrenal hyperplasia (CAH), Prader stage V. DSD with CAH is distressing for the patient and their families, and the management needs a multidimensional approach involving diverse medical, genetic, and psychological considerations. Cytogenetic and molecular genetic studies play an essential role in diagnosis and decision-making and should be made affordable in developing countries for better patient care.
PubMed: 38912360
DOI: 10.4103/ijabmr.ijabmr_473_23 -
Indian Journal of Endocrinology and... 2024Assessment of genitalia is an important part of the neonatal examination. Regional, racial, and ethnic variations in phallic length have been documented. Clitoral...
INTRODUCTION
Assessment of genitalia is an important part of the neonatal examination. Regional, racial, and ethnic variations in phallic length have been documented. Clitoral dimensions may also show similar variations. Normal values for neonatal clitoral measurements may help the pediatrician/neonatologist to accurately diagnose clitoromegaly and underlying etiology to guide appropriate investigations. Data on clitoral measurements is limited with only one study from India (Kolkata). Hence we aimed in this study to generate south Indian data on neonatal clitoral dimensions, anogenital distance, and anogenital ratio. Two hundred and fifty two hemodynamically stable term female neonates without ambiguous genitalia/vulval masses born in a community hospital. Hospital-based cross-sectional study. 1. To measure clitoral dimensions, anogenital distance, and anogenital ratio in female neonates. 2. To correlate clitoral dimensions, anogenital distance, and ratio with anthropometric measurements, gestational age, and maternal comorbidities.
METHODS
Measurements were recorded using a digital vernier caliper, under strict aseptic precautions with labia majora gently separated and the baby held in a frog-leg position. Clitoral length, width, and anogenital distance were measured and anogenital ratio and clitoral index were calculated.
RESULTS
In term neonates, the mean ± SD of clitoral length (CL), clitoral width (CW), anogenital ratio (AGR) were 6.34 ± 1.75 mm, 6.39 ± 1.27 mm and 0.39 ± 0.05, respectively. The 3 and 97 centiles for mean clitoral length were 3.55 and 9.93 mm, for mean clitoral width were 3.37 and 8.35 mm, and for AGR were 0.28 and 0.48, respectively. These clitoral dimensions in south Indian neonates were higher than those from East India (Kolkata), lower than Nigerian babies, and similar to Israeli neonates. Mean CL and CW had no statistical correlation with birth weight, gestational age, head circumference, or length in term neonates. A significant correlation was noted between pregnancy-induced hypertension and mean clitoral width, and between gestational diabetes and AGR.
CONCLUSION
Normative values for clitoral dimensions (length and width) and AGR for south Indian term female neonates have been established. 97 centiles of 9.93 mm (CL) and 8.35 mm (CW) and 0.48 mm (AGR) may be used as practical cut-offs to diagnose clitoromegaly and virilization. Clitoral measurements had no statistical correlation with birth weight, gestational age, or anthropometry. Clitoral measurements exhibit ethnic and racial differences, thus emphasizing the importance of regional cut-offs and need for more studies from different parts of India on CL.
PubMed: 38911105
DOI: 10.4103/ijem.ijem_145_23 -
Pediatric Radiology Jun 2024Magnetic resonance diffusion tensor imaging (DTI) has recently been used to evaluate the developing cartilage of children, but the influencing factors have not been well...
BACKGROUND
Magnetic resonance diffusion tensor imaging (DTI) has recently been used to evaluate the developing cartilage of children, but the influencing factors have not been well studied.
OBJECTIVE
The objective of this study was to investigate the influence of the diffusion gradient strength (b value), diffusion gradient direction, age and sex on knee cartilage DTI in healthy children aged 6-12 years.
MATERIALS AND METHODS
A total of 30 healthy child volunteers, with an average age of 8.9 ± 1.6 (mean ± standard deviation) years, were enrolled in this study. They were categorized into three groups according to their age range: 6-8 years, 8-10 years and 10-12 years, ensuring equal sex distribution in each group (5 boys and 5 girls). These volunteers underwent routine left knee joint magnetic resonance imaging (MRI) and serial DTI scans. DTI parameters were altered as follows: when b value = 600 s/mm, diffusion gradient direction was set to 6, 15, 25, 35 and 45; and when diffusion gradient direction = 25, b value was set to 300, 600, 900 and 1200 s/mm. The values of fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were separately acquired using image post-processing techniques. The correlation between various b values, diffusion gradient directions, age and sex on the one hand and FA and ADC values on the other, was investigated.
RESULTS
(1) When diffusion gradient direction was fixed and the b value was varied, both FA and ADC exhibited a decreasing trend as the b value increased (P < 0.001). (2) When the b value was fixed and diffusion gradient direction was varied, the FA of knee cartilage showed a decreasing trend with increasing diffusion gradient direction (P < 0.001). (3) The FA value increased with age (P < 0.05).
CONCLUSION
The b value, diffusion gradient direction value and age exert a significant impact on both FA and ADC values in MR DTI of knee cartilage in children aged 6-12 years. In order to obtain a stable DTI, it is recommended to select a b value ≥ 600 s/mm and a diffusion gradient direction ≥ 25 during scanning.
PubMed: 38910223
DOI: 10.1007/s00247-024-05965-x -
Veterinary Parasitology Jun 2024Toxoplasma gondii and Neospora caninum infections may be associated with neuromuscular disorders in dogs. The aim of this study was to assess the seroprevalence to these...
Toxoplasma gondii and Neospora caninum infections may be associated with neuromuscular disorders in dogs. The aim of this study was to assess the seroprevalence to these protozoan parasites in dogs with neuromuscular disease from urban areas of Buenos Aires province, Argentina, over a period of 20 years, and to evaluate the association of seropositivity and antibody titres with different variables such as sex, breed and age. For this, a total of 7238 serum samples from urban owned dogs were analysed by the indirect fluorescence antibody test (IFAT) for specific IgG antibodies. The observed seropositivity rates were 35.7 % for T. gondii and 25.7 % for N. caninum. Crossbred dogs had a significantly higher seroprevalence for T. gondii than purebred dogs (41 % vs. 29.3 %), while a trend towards significance was observed for N. caninum, which was slightly higher in purebred dogs (26 % vs. 23.6 %). Seroprevalence for both parasites increased with age and was higher in older animals. Regarding the distribution of specific antibody titres, the most frequent IFAT T. gondii titre found was 100 and for N. caninum it was ≥800. For toxoplasmosis, there was no association with age group, and low titres (50, 100 and 200) predominated in all groups. However, for neosporosis, age and titres were significantly associated for one age group, with dogs under 12 months of age having a higher proportion of high titres (400 and 800). The trend in the seroprevalence for T. gondii is increasing over the years and lower antibody titres predominate in the dogs studied, which may be more related to the presence of chronic infections and not necessarily to the clinical signs of the animals. Despite the generally low titres observed for toxoplasmosis in this study, it is important to highlight the high seroprevalence found in our region, as dogs can act as sentinels of environmental contamination and as indicators of possible human infection. In the case of neosporosis, although the trend in seroprevalence in dogs with signs appears to be decreasing over the years, our work shows that higher antibody titres predominate, and are probably related to the clinical signs presented by the dogs. This study provides the most recent epidemiological data and serological profiles of T. gondii and N. caninum infections in a large number of canine sera from urban areas in Argentina, providing relevant information for clinical veterinarians and epidemiologists in order to understand the circulation of the parasites.
PubMed: 38908047
DOI: 10.1016/j.vetpar.2024.110235 -
European Journal of Paediatric... Jun 2024Attentional and executive dysfunctions are the most frequent cognitive disorders in neurofibromatosis type 1 (NF1), with a high prevalence of attention...
PURPOSE
Attentional and executive dysfunctions are the most frequent cognitive disorders in neurofibromatosis type 1 (NF1), with a high prevalence of attention deficit-hyperactivity disorder (ADHD). We (i) compared attentional profiles between NF1 children with and without ADHD and children with primary ADHD criteria and (ii) investigated the possible relationship between attentional disorders and "unidentified bright objects" (UBOs) in NF1.
METHODS
This retrospective study included 47 NF1 children, 25 with ADHD criteria (NF1+adhd group), matched for age, sex, and cognitive level with 47 children with primary ADHD (ADHD group). We collected computer task (sustained-attention, visuomotor-decision, inhibition, and cognitive-flexibility tasks) scores normalized for age and sex, and brain magnetic resonance imaging data.
RESULTS
(i) Working memory was impaired in all groups. (ii) Omissions (p < 0.002) and response-time variability (p < 0.05) in sustained-attention and visuomotor-decision tasks and errors (p < 0.02) in the cognitive-flexibility task were lower for the NFI+adhd and ADHD groups than for the NF1-no-adhd group. (iii) The NF1+adhd group had slower response times (p ≤ 0.02) for inhibition and visuomotor-decision tasks than the other groups. (iv) We found no relevant association between cognitive performance and UBOs.
CONCLUSIONS
NF1 children with ADHD have an attentional and executive functions deficit profile similar to that of children with primary ADHD, but with a slower response-time, increasing learning difficulties. The atypical connectivity of fronto-striatal pathways, poorer dopamine homeostasis, and increased GABA inhibition observed in NF1 renders vulnerable the development of the widely distributed neural networks that support attentional, working-memory, and executive functions.
PubMed: 38905883
DOI: 10.1016/j.ejpn.2024.05.016 -
Medicine Jun 2024Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result...
BACKGROUND
Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or androgen synthesis.
METHODS
We present 2 rare cases of 46, XY DSD, specifically XY pure gonadal dysgenesis and complete androgen insensitivity syndrome.
RESULTS
Both cases underwent prophylactic gonadectomy due to the elevated risk of gonadal malignancy. Bilateral gonadoblastoma and dysgerminoma were diagnosed on one side, while Leydig cell hyperplasia and only Sertoli cells were diagnosed in the seminiferous tubules on both sides. The normal menstruation for the pure gonadal dysgenesis patient only as CAIS patients never menstruate. Estrogen replacement therapy was administered periodically to promote the development of secondary sexual characteristics and menstruation in pure gonadal dysgenesis case, as well as to prevent osteoporosis. Follow-up examinations revealed no tumor recurrence, and the patient with Swyer syndrome had regular menstrual cycles.
CONCLUSION
Laparoscopic bilateral prophylactic gonadectomy and long-term hormone therapy with patient counseling and support are recommended.
Topics: Humans; Androgen-Insensitivity Syndrome; Male; Gonadal Dysgenesis, 46,XY; Female; Gonadoblastoma
PubMed: 38905377
DOI: 10.1097/MD.0000000000038297 -
Journal of Sex Research Jun 2024Motivations for pornography use may vary across gender identities, sexual orientations, and geographical regions, warranting examination to promote individual and public...
Motivations for pornography use may vary across gender identities, sexual orientations, and geographical regions, warranting examination to promote individual and public health. The aims of this study were to validate the Pornography Use Motivations Scale (PUMS) in a diverse, multicultural sample, and develop a short form (PUMS-8) that can assess a wide range of pornography use motivations. Using data from 42 countries ( = 75,117; M = 32.07; SD = 12.37), enabled us to thoroughly evaluate the dimensionality, validity, and reliability of the Pornography Use Motivations Scale (PUMS), leading to the development of the more concise PUMS-8 short scale. Additionally, language-, nationality-, gender-, and sexual-orientation-based measurement invariance tests were conducted to test the comparability across groups. Both the PUMS and the PUMS-8 assess eight pornography use motivations, and both demonstrated excellent psychometric properties. Sexual Pleasure emerged as the most frequent motivation for pornography use across countries, genders, and sexual orientations, while differences were observed concerning other motivations (e.g. self-exploration was more prevalent among gender-diverse individuals than men or women). The motivational background of pornography use showed high similarity in the examined countries. Both the PUMS and the PUMS-8 are reliable and valid measurement tools to assess different types of motivations for pornography use across countries, genders, and sexual orientations. Both scales are recommended for use in research and clinical settings.
PubMed: 38905162
DOI: 10.1080/00224499.2024.2359641 -
African Journal of Reproductive Health Apr 2024Given the scarce data on DSD in Sudan, we aimed to characterize DSD's clinical and genetic profile in Sudanese patients. We studied 60 patients with DSD using clinical... (Comparative Study)
Comparative Study
Given the scarce data on DSD in Sudan, we aimed to characterize DSD's clinical and genetic profile in Sudanese patients. We studied 60 patients with DSD using clinical data, cytogenetics, and PCR for the SRY gene. The results showed that 65% grew up as females and 35% as males. There was a high percentage of consanguineous parents (85%). Female genital mutilation (FGM) was performed in 75% of females. Patients who presented after pubertal age were 63%, with ambiguous genitalia in 61.7%, followed by primary amenorrhea (PA) in 30%. The SRY gene was positive in 3.3% of patients with 46,XX karyotype and negative in 6.7% of patients with 46,XY karyotype. 5αR2D-DSD was seen in 43.3%, gonadal dysgenesis in 21.7%, Ovotesticular syndrome in 6.7%, Swyer and Turner syndrome in 5% each, and Androgen Insensitivity Syndrome (AIS) in 3.3%. In conclusion, DSD in Sudan has a distinct profile with late presentation, dominated by 5αR2D-DSD due to the increased consanguineous marriage, and FGM represents a significant risk for DSD patients.
Topics: Humans; Male; Female; Sudan; Middle Aged; Adult; Exercise; Diet; Disorders of Sex Development; Consanguinity; Aged; Adolescent; Reproduction; Gonadal Dysgenesis
PubMed: 38904941
DOI: 10.29063/ajrh2024/v28i4.2 -
Neurosurgical Review Jun 2024This study examined the risk factors for short-term outcomes, focusing particularly on the associations among molecular subgroups. The analysis focused on the data of... (Observational Study)
Observational Study
This study examined the risk factors for short-term outcomes, focusing particularly on the associations among molecular subgroups. The analysis focused on the data of pediatric patients with medulloblastoma between 2013 and 2023, as well as operative complications, length of stay from surgery to adjuvant treatment, 30-day unplanned reoperation, unplanned readmission, and mortality. 148 patients were included. Patients with the SHH TP53-wildtype exhibited a lower incidence of complications (45.2% vs. 66.0%, odds ratio [OR] 0.358, 95% confidence interval [CI] 0.160 - 0.802). Female sex (0.437, 0.207 - 0.919) was identified as an independent protective factor for complications, and brainstem involvement (1.900, 1.297 - 2.784) was identified as a risk factor. Surgical time was associated with an increased risk of complications (1.004, 1.001 - 1.008), duration of hospitalization (1.006, 1.003 - 1.010), and reoperation (1.003, 1.001 - 1.006). Age was found to be a predictor of improved outcomes, as each additional year was associated with a 14.1% decrease in the likelihood of experiencing a prolonged length of stay (0.859, 0.772 - 0.956). Patients without metastasis exhibited a reduced risk of reoperation (0.322, 0.133 - 0.784) and readmission (0.208, 0.074 - 0.581). There is a significant degree of variability in the occurrence of operative complications in pediatric patients with medulloblastoma. SHH TP53-wildtype medulloblastoma is commonly correlated with a decreased incidence of complications. The short-term outcomes of patients are influenced by various unmodifiable endogenous factors. These findings could enhance the knowledge of onconeurosurgeons and alleviate the challenges associated with patient/parent education through personalized risk communication. However, the importance of a dedicated center with expertise surgical team and experienced neurosurgeon in improving neurosurgical outcomes appears self-evident.
Topics: Humans; Medulloblastoma; Female; Male; Child; Cerebellar Neoplasms; Neurosurgical Procedures; Child, Preschool; Postoperative Complications; Treatment Outcome; Adolescent; Cohort Studies; Length of Stay; Reoperation; Hedgehog Proteins; Risk Factors; Tumor Suppressor Protein p53
PubMed: 38904885
DOI: 10.1007/s10143-024-02526-6 -
Molecular Medicine Reports Aug 2024Estrogens are involved in a number of physiological functions, including in the development of the brain, growth, reproduction and metabolism. The biological actions of... (Review)
Review
Estrogens are involved in a number of physiological functions, including in the development of the brain, growth, reproduction and metabolism. The biological actions of estrogens are achieved by binding to estrogen receptors (ERs) in numerous types of tissues. ERα and ERβ belong to the nuclear receptor superfamily and the G‑protein coupled ER1 (GPER1) is a membrane receptor. The primary biologically active estrogen, 17β‑estradiol demonstrates a high affinity for ERs. Mechanistically, estrogens bind to the ERs in the nucleus, and the complex then dimerize and bind to estrogen response elements (EREs) located in the promoter regions of the target genes. This is referred to as the genomic mechanism of ERs' function. Furthermore, ERs can also act through kinases and other molecular interactions leading to specific gene expression and functions, referred to as the non‑genomic mechanism. While ERα and ERβ exert their functions via both genomic and non‑genomic pathways, GPER1 exerts its function primarily via the non‑genomic pathways. Any aberrations in ER signaling can lead to one of a number of diseases such as disorders of growth and puberty, fertility and reproduction abnormalities, cancer, metabolic diseases or osteoporosis. In the present review, a focus is placed on three target tissues of estrogens, namely the bones, the breasts and the brain, as paradigms of the multiple facets of the ERs. The increasing prevalence of breast cancer, particularly hormone receptor‑positive breast cancer, is a challenge for the development of novel antihormonal therapies other than tamoxifen and aromatase inhibitors, to minimize toxicity from the long treatment regimens in patients with breast cancer. A complete understanding of the mechanism of action of ERs in bones may highlight options for novel targeted treatments for osteoporosis. Likewise, the aging of the brain and related diseases, such as dementia and depression, are associated with a lack of estrogen, particularly in women following menopause. Furthermore, gender dysphoria, a discordance between experienced gender and biological sex, is commonly hypothesized to emerge due to discrepancies in cerebral and genital sexual differentiation. The exact role of ERs in gender dysphoria requires further research.
Topics: Humans; Receptors, Estrogen; Signal Transduction; Brain; Bone and Bones; Breast; Animals; Female; Estrogens; Receptors, G-Protein-Coupled
PubMed: 38904201
DOI: 10.3892/mmr.2024.13268